Glycogen Storage Disease Type II, Pompe Disease
Conditions
Brief summary
The purpose of this study is to see how molecules called pharmacological chaperones affect the cells of patients with Pompe disease. The study will last 1 or 2 visits which will include a blood collection, urine collection, and two skin biopsies. Information will also be collected from the medical records about disease history and diagnosis. Patients will not receive any study medication.
Detailed description
The study is designed to evaluate the response of cell lines derived from blood and skin tissue from Pompe patients to pharmacological chaperones. Samples of blood and skin tissue will be obtained to make cell lines that will be used to test pharmacological chaperones. The study will include patients with early and late-onset Pompe disease.
Interventions
OTHERObservation
Ex vivo administration of AT2220
Sponsors
Amicus Therapeutics
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Male or female of any age * Confirmed diagnosis of Pompe disease (early or late-onset) * Clinically stable * Written informed consent by subject or legal representative
Exclusion criteria
* Other significant disease or otherwise unsuitable for the study, as determined by the investigator
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate and characterize the effects of pharmacological chaperones on enzyme activity and other markers of disease in cell lines derived from patients with Pompe disease | 1 week |
Secondary
| Measure | Time frame |
|---|---|
| To study biomarkers associated with Pompe Disease and study the correlation between biomarkers and clinical disease state of patients with Pompe disease | 1 week |
Countries
United States
Outcome results
None listed